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NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Oct 1, 2023
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001507743.16

Allele description [Variation Report for NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)]

NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)

Gene:
DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.3
Genomic location:
Preferred name:
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
HGVS:
  • NC_000009.12:g.420579A>G
  • NG_017007.1:g.210715A>G
  • NM_001190458.2:c.3719A>G
  • NM_001193536.2:c.3815A>G
  • NM_203447.4:c.4019A>GMANE SELECT
  • NP_001177387.1:p.Tyr1240Cys
  • NP_001180465.1:p.Tyr1272Cys
  • NP_001180465.1:p.Tyr1272Cys
  • NP_982272.2:p.Tyr1340Cys
  • NP_982272.2:p.Tyr1340Cys
  • LRG_196t1:c.4019A>G
  • LRG_196:g.210715A>G
  • LRG_196p1:p.Tyr1340Cys
  • NC_000009.11:g.420579A>G
  • NM_001193536.1:c.3815A>G
  • NM_203447.3:c.4019A>G
Protein change:
Y1240C
Links:
dbSNP: rs116920018
NCBI 1000 Genomes Browser:
rs116920018
Molecular consequence:
  • NM_001190458.2:c.3719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193536.2:c.3815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203447.4:c.4019A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001713478Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Sep 30, 2022)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV004161721CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Oct 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD, Li AH, Marcketta A, Sun D, Mbatchou J, Kessler MD, Benner C, Liu D, Locke AE, Balasubramanian S, Yadav A, Banerjee N, Gillies CE, Damask A, Liu S, Bai X, Hawes A, Maxwell E, Gurski L, Watanabe K, Kosmicki JA, Rajagopal V, et al.

Nature. 2021 Nov;599(7886):628-634. doi: 10.1038/s41586-021-04103-z. Epub 2021 Oct 18.

PubMed [citation]
PMID:
34662886
PMCID:
PMC8596853

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713478.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004161721.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

DOCK8: BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 15, 2024